Genetic causes of male infertility and azoospermia
Official title: Genetics of Male Infertility: Accelerating the pace of discovery
Funded at Magee-Women's Res Inst and Foundation · NIH-11194422 · Data updated 2026-11-12
This project aims to find gene changes that cause nonobstructive azoospermia in men to improve diagnosis and guide future treatments.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Magee-Women's Res Inst and Foundation NIH-funded |
| Lab location | 1 site (Pittsburgh, UNITED STATES) |
| Project start | September 1, 2019 |
| Project end | June 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $1,644,034 |
| NIH project number | 5P50HD096723-07 |
| Project ID | NIH-11194422 on NIH RePORTER |
Who could benefit from this research
✓Could help
Men with unexplained nonobstructive azoospermia or severe unexplained infertility would be the most relevant candidates for this work.
✕Less likely to help
People whose infertility is due to obstructive causes, clear environmental or reversible factors, or unrelated conditions are unlikely to benefit directly from these genetic-focused efforts.
What this research studies
If you have unexplained absence of sperm, researchers will sequence genomes from affected men to look for genetic changes that might explain infertility. An international team will create rules for interpreting those genetic changes so they can be used in clinical genetic tests. In lab experiments they will grow early sperm cells in vitro and use chimeric mice to test whether specific gene changes disrupt sperm development. The team will also study how epigenetic factors affect early germ cell development and compare mouse reproductive findings to human data.
Why it matters
Potential benefit: This work could lead to clearer genetic diagnoses, better counseling, and eventually patient-tailored treatments for some men with azoospermia.
How similar studies have gone: Previous genetic studies have identified some causes of male infertility, but many cases remain unexplained and this program combines sequencing with new lab validation approaches that are relatively novel.
Where this research is happening
-
Magee-Women's Res Inst and Foundation
Pittsburgh, United States Active
Researchers
- Principal investigator: Orwig, Kyle Edwin — Magee-Women's Res Inst and Foundation
- Study coordinator: Orwig, Kyle Edwin
Related research
Other NIH-funded projects on the same topics.
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Genetics of Male Infertility: Accelerating Discovery and Clinical Impact
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Finding genes behind male infertility
This project uses long-read DNA sequencing to find genes and mutations that may cause infertility in men.
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Exploring the link between genetic mutations and male infertility
This study is looking at how higher rates of genetic changes in men might be linked to infertility and other health problems, and it involves men with varying fertility levels who will provide samples to help us understand these connections better.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.